SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.080 None 1.000 8 1 2004 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.250 None 1.000 5 1 2011 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.050 None 1.000 5 1996 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.040 None 1.000 4 1 1986 2016
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.310 None 0.750 4 1 1995 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.310 None 0.750 4 1 1995 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.040 None 1.000 4 2 2011 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.030 None 1.000 3 1998 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.030 None 1.000 3 1998 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.030 None 1.000 3 1998 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.020 None 1.000 2 2014 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.020 None 1.000 2 2017 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.020 None 1.000 2 1 2013 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.020 None 1.000 2 2019 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 1.000 2 1 2010 2012
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.020 None 1.000 2 1 2011 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 1 2013 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 1 2013 2017
CUI: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis 		disease Neoplasms; Infections; Nervous System Diseases Disease or Syndrome 27 0.020 None 1.000 2 2019 2019
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 7 0.700 None 1.000 2 7 2004 2011
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		disease Disease or Syndrome 30 3 0.010 None 1.000 1 2013 2013
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2014 2014
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.010 None 1.000 1 2014 2014
CUI: C0454651
Disease: Specific language impairment
Specific language impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 34 9 0.010 None 1.000 1 1 2015 2015